Genopathy
Gene-Disorder Association · Article
Gene
LOC126805916
BRD4-Independent Group 4 Enhancer GRCh37_chr1:171076844-171078043
Disorder
Trimethylaminuria
First reported 1997
Supporting publications 23
Key publication · gene–disorder Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome.Nature genetics · 1997
Key publication · disorder Trimethylaminuria: the fish-odour syndrome.Lancet (London, England) · 1970
Manually curated
Association Review

In brief

The association between LOC126805916 (BRD4-Independent Group 4 Enhancer GRCh37_chr1:171076844-171078043) and Trimethylaminuria is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 30
Symptoms 17
Compounds 0
Trials 0
Publications 23
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
LOC126805916

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Trimethylaminuria

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

8 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

30 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Literature

Reading

23 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

12 references

Every source and publication cited across this dossier, as one numbered reference list.

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